Pompe Disease

Pome disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body’s cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs the ability to function normally. Researchers have described three types of Pompe disease, which differ in severity and the age at which they appear.  These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset.

Classic from of infantile-onset Pompe disease begins within a few months of birth, infants with this disorder typically experience muscle weakness, poor muscle tone, enlarged liver and heart defects.  The affected infants may also fail to gain weight and grow at the expected rate and have breathing problems.  If untreated, this form of Pompe disease leads to death from heart failure in the first year of life.

The non-classic form of infantile-onset Pompe disease usually appears by age 1.  It is characterized by delayed motor skills and progressive muscle weakness.  The heart may be abnormally large but affected individuals usually do not experience heart failure.  The mucle weakness in this disorder leads to serious breathing problems, and most children with this form live only unto early childhood.

The late onset type of Pompe disease may not become apparent until later in childhood, adolescence, or adulthood.  This form of disease is usually milder than the infantile-onset forms of this disorder and is less likely to involve the heart.  Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.

Pompe disease affects about 1 in 40,000 people in the United States.  It is inherited in at autosomal recessive pattern, which means both copies of the gene in each cell have mutations.  The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.